DOCSLIB.ORG

Management of Deformities Secondary to Bone Dysplasia

Total Page：16

File Type：pdf, Size：1020Kb

Download full-text PDF Read full-text
Management of Deformities Secondary to Bone Dysplasia MANAGEMENT OF DEFORMITIES SECONDARY TO BONE DYSPLASIA Stuart L. Weinstein, M.D. Professor Department of Orthopaedic Surgery University of Iowa Iowa City, Iowa 52242 In evaluating a patient with skeletal dysplasia the ortho- atlas. The spine shows characteristic decrease in the inter- paedic surgeon must keep several general concepts in pedicular distances on the AP view proceeding cephalad mind. Children with a skeletal dysplasia have dispropor- to caudal. On the lateral view, the pedicles are broad and tionate growth of various portions of the skeleton. These thick. The vertebrae are often bullet shaped. The AP disproportions may change during growth, i.g. in spon- diameter of the body is small with scalloping of the pos- dyloepiphyseal dysplasia congenita the trunk grows at a terior body margins (secondary to dural compression). relatively slower rate than the limbs during the first decade23. The pelvis has short square ilia, the sciatic notches are The portion of the skeleton primarily affected tends to narrow and deep and the acetabulum is horizontal. The have the greatest number of problems. Thus short trunked long bones are short and broad with wide flaring of the dwarfs tend to have more problems with spinal deformity metaphyses. The growth plate is like an inverted V and and atlantoaxial instability while short limbed dwarfs tend the fibula is longer than the tibia. The radial head may be to have more problems with joint malalignment, joint con- dislocated. tractures, etc. The more severely involved the individual Most achondroplasts will develop a thoracolumbar is, the greater the likelihood of having associated prob- kyphosis in the T10 to L4 region (Fig. 1). These curves lems. In addition, once the patient becomes ambulatory have been reported to reach 70 degrees23 40. These curves secondary deformities may be superimposed as the effects are usually supple and 90 percent will regress when inde- of weight bearing are exerted on the dysplastic bones and pendent gait is achieved23. However, some achondroplasts joints. will have anterior vertebral body wedging or body reces- It would be a monumental task to discuss the manage- sion leading to kyphosis. These kyphotic curves may prog- ment of all of the musculoskeletal dysplasias. Therefore ress and lead to anterior spinal cord compression requiring we will attempt to discuss the management of the mus- anterior decompression in addition to anterior and poste- culoskeletal problems of the most common skeletal rior fusion. If the deformity is less than 60 degrees and if dysplasias23. The basic principles used in the management the patient has no neurologic deficit, the kyphosis should of these conditions can then be applied to other skeletal be treated with a Milwaukee brace with kyphosis pads. dysplasias. Should the deformity reach greater than 60 degrees, con- sideration should be given to anterior and posterior spine Achondroplasia fusion5"4'23 Achondroplasia is the most common form of dwarfism2 16,20,23,34,36,40,43 and is the prototype of the short limbed dwarf. It is an autosomal dominant disorder but 80 percent of the cases represent spontaneous mutations40. These children are easily recognizable at birth. Their char- acteristic features include an enlarged head with frontal bossing, mild hypoplasia of the mid face, prominent man- dible, broad short hands with a space between the third and fourth digits (trident hand), rhizomelic shortening of the extremities with ligamentous laxity and slight hypotonia23'40. These patients commonly have delays in reaching milestones secondary to their disporportionate enlarged head and trunk relative to their extremities and relative hypotonia. Roentgenographic features of the cranium include over- all cranial enlargement with shortening of the base of the Fig. 1 skull while the foramen magnum is small and the frontal Achondroplasia. (A) Newborn with thoracolumbar kyphosis. (B) area is prominent. There may be occipitalization of the By age twenty-three months the kyphosis is resolving. 46 The Iowa Orthopaedic Journal Management of Deformities Secondary to Bone Dysplasia Scoliosis is uncommon in achondroplasts and if present is usually insignificant5'23. Odontoid hypoplasia is also not a problem in these patients. Genu varum is a common problem in achondroplasia23. Ponseti feels that the genu varum is secondary to fibular overgrowth36. The bowing primarily affects the proximal leg but occasionally may be evident distally. Patients may complain of pain where the fibula comes in contact with the calcaneus if there is heel valgus to accommodate the genu varum. If the deformity is distal, this should be Fig. 3 treated by a supramalleolar osteotomy. Ligamentous laxity Achondroplasia. CAT scan of a twenty-three year old with contributes to the deformity although this tends to decrease symptoms of spinal stenosis. Note the narrowed canal in both with age. Bracing will not correct this deformity and is not AP and transverse planes. recommnended. These patients' extremities are extremely difficult to fit with an orthosis and the closeness of the Lumbar myelography may be difficult to perform and joints make them cumbersome. In addition, the brace acts even hazardous because of the small canal. Typically it will through lax ligaments rather than bone4'23. We have treated show pooling of dye at the body levels and filling defects the genu varum deformity by proximal fibular epiphyseo- at the disc levels and possibly a block at L3. desis in the preadolescent patients with mild deformity. In The treatment is adequate laminectomy. This usually older children with knee discomfort, resection of the encompasses five to ten levels and may require partial prominent fibular head and, in the more severe deformi- pediculectomy, facetectomy and formaninotomy. An inad- ties, opening wedge spike osteotomies have been done to equate decompression will often lead to increasing symp- correct the malalignment (Fig. 2)36. The deformities tend toms necessitating extension of the laminectomy in length not to recur. Flexion contractures are present about the and width. The facet joints are very close to midline in hip and elbow and are usually well tolerated. achondroplasts and thus postlaminectomy instability is usu- ally not a problem. Therefore fusion is usually only needed if the facet joint congruity is disrupted5'23'28. Pseudoachondroplasia Dysplasia Pseudoachondroplasia dysplasia was first described by Maroteaux and Lamy in 195929. Subsequently four forms have been delineated5'17 with both autosomal dominant and recessive inheritance and varying severity of musculo- skeletal problems. It represents the second most common type of short limbed dwarf after achondroplasia. The dis- order can be differentiated from achondroplasia because Fig. 2 the patients have a normal sized and shaped head, a greater Achondroplasia. Left, preoperative roentgenogram demonstrat- degree of ligamentous laxity, particularly about the wrists, ing genu varum and fibular overgrowth. Center, roentgenogram immediate postoperative opening wedge spike osteotomies and ankles, and knees, and severe lower extremity deformities proximal fibular head resections. Right, roentgenogram one year (Fig. 4). The disorder is not detectable at birth, the rhi- postoperatively. zomelic shortening becoming evident at age two to three. The most significant problem facing the achondroplast They have a waddling gait and excessive lumbar lordosis. is spinal stenosis. Approxinately 40 percent of adult patients Roentgenographically there is generalized involvement are affected; however, the number is significantly greater of both the epiphyses and metaphyses of the tubular bones. if one takes into account those with mnild symptoms5. The The epiphyses are delayed in their appearance and are etiology is the narrowed canal in the frontal and sagittal small and fragmented when they do appear8. The central planes (Fig. 3). Other contributing factors may include portions appear normal but the periphery is markedly increasing lumbar lordosis, herniated nucleus pulposis, deformed, especially at the sites of ligament insertions9. bulging annulae, hypertrophied facet joints and The metaphyses are splayed and frayed. The vertebrae osteophytes"15'23'28. The average age of symptom onset is show varying degrees of platyspondylia, being biconvex thirty-eight years' 28. The patients may present with either with anterior tonguing. The severity of these changes signs or symptoms of nerve root compression, cauda equina decreases with age. The pelvis demonstrates large ilia and syndrome, paralysis or claudication28. short ischia and pubi. Volume 8 47 S. L. Weinstein cation of the epiphyses may require the surgeon to use arthrography at surgery to insure proper joint alignment. These deformities have a tendency to recur; therefore slight overcorrection with the opening wedge osteotomies should be obtained at surgery to prevent recurrence (Fig. 5)2. Patients with pseudoachondroplasia dysplasia have a tendency to develop degenerative joint disease2'9'43 which may require joint replacements. Fig. 5 Pseudoachondroplasia Dysplasia. Left, preoperative roentgen- ogram demonstrating genu varum. Note also the splaying and fraying of the metaphyseal regions. Right, roentgenogram one year postoperative bilateral opening wedge tibial and fibular osteotomies. Scoliosis may develop but it is usually not severe and if progressive should be treated by standard Milwaukee brace Fig. 4 causes Pseudoachondroplasia Dysplasia. Seven year old male.
Load more

Recommended publications
  • Genu Varum and Genu Valgum Genu Varum and Genu Valgum
    Common Pediatric Lower Limb Disorders Dr.Kholoud Al-Zain Assistant Professor Consultant, Pediatric Orthopedic Surgeon Nov- 2018 Acknowledgement: Dr.Abdalmonem Alsiddiky Dr.Khalid Bakarman Prof. M. Zamzam Topics to Cover 1. In-toeing 2. Genu (varus & valgus), & proximal tibia vara 3. Club foot 4. L.L deformities in C.P patients 5. Limping & leg length inequality 6. Leg aches 1) Intoeing Intoeing- Evaluation • Detailed history – Onset, who noticed it, progression – Fall a lot – How sits on the ground • Screening examination (head to toe) • Pathology at the level of: – Femoral anteversion – Tibial torsion – Forefoot adduction – Wandering big toe Intoeing- Asses rotational profile Pathology Level Special Test • Femoral anteversion • Hips rotational profile: – Supine – Prone • Tibial torsion • Inter-malleolus axis: – Supine – Prone • Foot thigh axis • Forefoot adduction • Heel bisector line • Wandering big toe Intoeing- Special Test Foot Propagation Angle → normal is (-10°) to (+15°) Intoeing- Femoral Anteversion Hips rotational profile, supine → IR/ER normal = 40-45/45-50° Intoeing- Tibial Torsion Inter-malleolus axis Supine position Sitting position Intoeing- Tibial Torsion Foot Thigh Axis → normal (0°) to (-10°) Intoeing- Forefoot Adduction Heel bisector line → normal along 2 toe Intoeing- Adducted Big Toe Intoeing- Treatment • Establish correct diagnosis • Parents education • Annual clinic F/U → asses degree of deformity • Femoral anti-version → sit cross legged • Tibial torsion → spontaneous improvement • Forefoot adduction → anti-version
    [Show full text]
  • Frontosphenoidal Synostosis: a Rare Cause of Unilateral Anterior Plagiocephaly
    View metadata, citation and similar papers at core.ac.uk brought to you by CORE provided by RERO DOC Digital Library Childs Nerv Syst (2007) 23:1431–1438 DOI 10.1007/s00381-007-0469-4 ORIGINAL PAPER Frontosphenoidal synostosis: a rare cause of unilateral anterior plagiocephaly Sandrine de Ribaupierre & Alain Czorny & Brigitte Pittet & Bertrand Jacques & Benedict Rilliet Received: 30 March 2007 /Published online: 22 September 2007 # Springer-Verlag 2007 Abstract Conclusion Frontosphenoidal synostosis must be searched Introduction When a child walks in the clinic with a in the absence of a coronal synostosis in a child with unilateral frontal flattening, it is usually associated in our anterior unilateral plagiocephaly, and treated surgically. minds with unilateral coronal synostosis. While the latter might be the most common cause of anterior plagiocephaly, Keywords Craniosynostosis . Pediatric neurosurgery. it is not the only one. A patent coronal suture will force us Anterior plagiocephaly to consider other etiologies, such as deformational plagio- cephaly, or synostosis of another suture. To understand the mechanisms underlying this malformation, the development Introduction and growth of the skull base must be considered. Materials and methods There have been few reports in the Harmonious cranial growth is dependent on patent sutures, literature of isolated frontosphenoidal suture fusion, and and any craniosynostosis might lead to an asymmetrical we would like to report a series of five cases, as the shape of the skull. The anterior skull base is formed of recognition of this entity is important for its treatment. different bones, connected by sutures, fusing at different ages. The frontosphenoidal suture extends from the end of Presented at the Consensus Conference on Pediatric Neurosurgery, the frontoparietal suture, anteriorly and inferiorly in the Rome, 1–2 December 2006.
    [Show full text]
  • Osteodystrophy-Like Syndrome Localized to 2Q37
    Am. J. Hum. Genet. 56:400-407, 1995 Brachydactyly and Mental Retardation: An Albright Hereditary Osteodystrophy-like Syndrome Localized to 2q37 L. C. Wilson,"7 K. Leverton,3 M. E. M. Oude Luttikhuis,' C. A. Oley,4 J. Flint,5 J. Wolstenholme,4 D. P. Duckett,2 M. A. Barrow,2 J. V. Leonard,6 A. P. Read,3 and R. C. Trembath' 'Departments of Genetics and Medicine, University of Leicester, and 2Leicestershire Genetics Centre, Leicester Royal Infirmary, Leicester, 3Department of Medical Genetics, St Mary's Hospital, Manchester. 4Department of Human Genetics, University of Newcastle upon Tyne, Newcastle upon Tyne; 5MRC Molecular Haematology Unit, Institute of Molecular Medicine, Oxford; and 6Medical Unit and 7Mothercare Unit for Clinical Genetics and Fetal Medicine, Institute of Child Health, London Summary The physical feature brachymetaphalangia refers to shortening of either the metacarpals and phalanges of the We report five patients with a combination ofbrachymeta- hands or of the equivalent bones in the feet. The combina- phalangia and mental retardation, similar to that observed tion of brachymetaphalangia and mental retardation occurs in Albright hereditary osteodystrophy (AHO). Four pa- in Albright hereditary osteodystrophy (AHO) (Albright et tients had cytogenetically visible de novo deletions of chro- al. 1942), a dysmorphic syndrome that is also associated mosome 2q37. The fifth patient was cytogenetically nor- with cutaneous ossification (in si60% of cases [reviewed by mal and had normal bioactivity of the a subunit of Gs Fitch 1982]); round face; and short, stocky build. Affected (Gsa), the protein that is defective in AHO. In this patient, individuals with AHO may have either pseudohypopara- we have used a combination of highly polymorphic molec- thyroidism (PHP), with end organ resistance to parathyroid ular markers and FISH to demonstrate a microdeletion at hormone (PTH) and certain other cAMP-dependent hor- 2q37.
    [Show full text]
  • Peds Ortho: What Is Normal, What Is Not, and When to Refer
    Peds Ortho: What is normal, what is not, and when to refer Future of Pedatrics June 10, 2015 Matthew E. Oetgen Benjamin D. Martin Division of Orthopaedic Surgery AGENDA • Definitions • Lower Extremity Deformity • Spinal Alignment • Back Pain LOWER EXTREMITY ALIGNMENT DEFINITIONS coxa = hip genu = knee cubitus = elbow pes = foot varus valgus “bow-legged” “knock-knee” apex away from midline apex toward midline normal varus hip (coxa vara) varus humerus valgus ankle valgus hip (coxa valga) Genu varum (bow-legged) Genu valgum (knock knee) bow legs and in toeing often together Normal Limb alignment NORMAL < 2 yo physiologic = reassurance, reevaluate @ 2 yo Bow legged 7° knock knee normal Knock knee physiologic = reassurance, reevaluate in future 4 yo abnormal 10 13 yo abnormal + pain 11 Follow-up is essential! 12 Intoeing 1. Femoral anteversion 2. Tibial torsion 3. Metatarsus adductus MOST LIKELY PHYSIOLOGIC AND WILL RESOLVE! BRACES ARE HISTORY! Femoral Anteversion “W” sitters Internal rotation >> External rotation knee caps point in MOST LIKELY PHYSIOLOGIC AND MAY RESOLVE! Internal Tibial Torsion Thigh foot angle MOST LIKELY PHYSIOLOGIC AND WILL RESOLVE BY SCHOOL AGE Foot is rotated inward Internal Tibial Torsion (Fuchs 1996) Metatarsus Adductus • Flexible = correctible • Observe vs. casting CURVED LATERAL BORDER toes point in NOT TO BE CONFUSED WITH… Clubfoot talipes equinovarus adductus internal varus rotation equinus CAN’T DORSIFLEX cavus Clubfoot START19 CASTING JUST AFTER BIRTH Calcaneovalgus Foot • Intrauterine positioning • Resolve
    [Show full text]
  • Orphanet Journal of Rare Diseases Biomed Central
    Orphanet Journal of Rare Diseases BioMed Central Review Open Access Brachydactyly Samia A Temtamy* and Mona S Aglan Address: Department of Clinical Genetics, Human Genetics and Genome Research Division, National Research Centre (NRC), El-Buhouth St., Dokki, 12311, Cairo, Egypt Email: Samia A Temtamy* - [email protected]; Mona S Aglan - [email protected] * Corresponding author Published: 13 June 2008 Received: 4 April 2008 Accepted: 13 June 2008 Orphanet Journal of Rare Diseases 2008, 3:15 doi:10.1186/1750-1172-3-15 This article is available from: http://www.ojrd.com/content/3/1/15 © 2008 Temtamy and Aglan; licensee BioMed Central Ltd. This is an Open Access article distributed under the terms of the Creative Commons Attribution License (http://creativecommons.org/licenses/by/2.0), which permits unrestricted use, distribution, and reproduction in any medium, provided the original work is properly cited. Abstract Brachydactyly ("short digits") is a general term that refers to disproportionately short fingers and toes, and forms part of the group of limb malformations characterized by bone dysostosis. The various types of isolated brachydactyly are rare, except for types A3 and D. Brachydactyly can occur either as an isolated malformation or as a part of a complex malformation syndrome. To date, many different forms of brachydactyly have been identified. Some forms also result in short stature. In isolated brachydactyly, subtle changes elsewhere may be present. Brachydactyly may also be accompanied by other hand malformations, such as syndactyly, polydactyly, reduction defects, or symphalangism. For the majority of isolated brachydactylies and some syndromic forms of brachydactyly, the causative gene defect has been identified.
    [Show full text]
  • Classific-Ation and Identification of Inherited Brachydactylies
    Journal of Medical Genetics, 1979, 16, 36-44 Classific-ation and identification of inherited brachydactylies NAOMI FITCH From the Lady Davis Institute for Medical Research, Jewish General Hospital, Montreal, Quebec, Canada SUMMARY A search for patterns of malformation in the brachydactylies has resulted in new ways to identify the different types. Type A-I can be characterised by a proportionate reduction of the middle phalanges. Type B is thought to be an amputation-like defect. In type C the fourth middle phalanx is usually the longest, and type E (Riccardi and Holmes, 1974) is characterised by short metacarpals and short distal phalanges. Short stature is usually present in type A-1 and type E brachydactyly (Riccardi and Holmes, 1974) and it may be present in some individuals with brachydactyly C. As short children have short hands, it is possible that in patients with very mild expressions of brachydactyly the cause of the short stature may be overlooked. It is suggested that in every child with propor- tionate short stature the hands should be carefully examined. If the hands are disproportionately short, if any distal creases are missing, if there is a shortening, however mild, of any finger, if any metacarpals are short, then it is important to have x-rays to look for brachydactyly A-1, C, or E. Much information is still needed. It is important in future reports to have skeletal surveys, pattern profile analyses, and to note the height of children with brachydactyly C. Most interesting of all will be when fetal limbs of each type become available for study.
    [Show full text]
  • Free PDF Download
    Eur opean Rev iew for Med ical and Pharmacol ogical Sci ences 2015; 19: 4549-4552 Concomitance of types D and E brachydactyly: a case report T. TÜLAY KOCA 1, F. ÇILEDA ğ ÖZDEMIR 2 1Malatya State Hospital, Physical Medicine and Rehabilitation Clinic, Malatya, Turkey 2Inonu University School of Medicine, Department of Physical Medicine and Rehabilitation, Malatya, Turkey Abstract. – Here, we present of a 35-year old examination, it was determined that the patient, female diagnosed with an overlapping form of who had kyphotic posture and brachydactyly in non-syndromic brachydactyly types D and E the 3 rd and 4 th finger of the right hand, in the 4th with phenotypic and radiological signs. There finger of the left hand and clinodactyly with was observed to be shortening in the right hand th metacarpal of 3 rd and 4 th fingers and left hand brachdactyly in the 4 toe of the left foot (Fig - metacarpal of 4 th finger and left foot metatarsal ures 1 and 2). It was learned that these deformi - of 4 th toe. There was also shortening of the distal ties had been present since birth and a younger phalanx of the thumbs and thoracic kyphosis. sister had similar shortness of the fingers. There The syndromic form of brachydactyly type E is was no known systemic disease. The menstrual firmly associated with pseudo-hypopthyroidism cycle was regular and there was no known his - as resistance to pthyroid hormone is the most prominent feature. As the patient had normal tory of osteoporosis. In the laboratory tests, the stature, normal laboratory parameters and no results of full blood count, sedimentation, psychomotor developmental delay, the case was parathormon (PTH), vitamin D, calcium, alka - classified as isolated E type brachydactyly.
    [Show full text]
  • 5/19/2016 18
    5/19/2016 1 Pediatric Orthopaedics for Primary Care Providers 22 Disclosure Statement No conflicts related to this presentation 33 44 Goals 1. Discuss some common pediatric problems seen in the clinic 2. Examination techniques 3. Basics of treatment 55 Overview 1. DDH 2. Clubfoot 3. Gait abnormalities 4. Shape abnormalities 5. Fracture topics 6. Hip and knee problems 7. Tumors 66 Developmental Dysplasia of the Hip Spectrum of abnormal development of the hip May be congenital or develop during infancy or childhood Incidence ~ 1:1000 of infants 77 Risk Factors 1st born Girls Family history Breech Metatarsus adductus/CMT Joint laxity 88 Diagnosis Clinical examination (at birth and subsequent well-baby examinations) Clunks signify dislocating hip (Barlow sign) or relocating hip (Ortolani sign) Sustained dislocation may demonstrate decreased hip abduction or leg length discrepancy (unilateral) 9 10 1 11 5/19/2016 Sustained dislocation may demonstrate decreased hip abduction or leg length discrepancy (unilateral) 99 Bilateral DDH 1010 Ortolani Maneuver 1111 Barlow Maneuver 1212 Screening All newborns should have examination of the hip as part of routine exam Imaging is not recommended on a routine basis At risk babies should have ultrasound examination at 4-6 weeks of age (+/- AP pelvis radiograph at 6 months of age) 1313 Treatment Early identification Pavlik harness 1414 Try to prevent situations like these 1515 Dysplasia Unfortunately, cases like these are going to be missed 1616 Congenital Talipes Equinovarus Multifactorial etiology Incidence
    [Show full text]
  • An Isolated Case of Brachyphalangism of the Basal Finger Bones of the Little Finger with Symptoms of Tenosynovitis: a Case Report
    Open Journal of Rheumatology and Autoimmune Diseases, 2018, 8, 66-70 http://www.scirp.org/journal/ojra ISSN Online: 2164-005X ISSN Print: 2163-9914 An Isolated Case of Brachyphalangism of the Basal Finger Bones of the Little Finger with Symptoms of Tenosynovitis: A Case Report Kazuhiko Hashimoto*, Ryosuke Kakinoki, Yukiko Hara, Naohiro Oka, Hiroki Tanaka, Kazuhiro Ohtani, Masao Akagi Department of Orthopedic Surgery, Kindai University Hospital, Osakasayama City, Osaka, Japan How to cite this paper: Hashimoto, K., Abstract Kakinoki, R., Hara, Y., Oka, N., Tanaka, H., Ohtani, K. and Akagi, M. (2018) An Isolated Brachydactyly is a general term that refers to disproportionately short fingers Case of Brachyphalangism of the Basal Fin- and toes and forms a part of the group of limb malformations characterized ger Bones of the Little Finger with Symp- by bone dysostosis. Brachydactyly usually occurs either as an isolated malfor- toms of Tenosynovitis: A Case Report. Open Journal of Rheumatology and Autoimmune mation or as a part of a complex malformation syndrome. Brachydactyly is Diseases, 8, 66-70. classified as types A, B, C, D, or E; brachymetatarsus IV; Sugarman brachy- https://doi.org/10.4236/ojra.2018.82006 dactyly; or Kirner deformity. Various types of isolated brachydactyly are rare, except for types A3 and D. We describe a 15-year-old girl with isolated bra- Received: April 7, 2018 Accepted: May 22, 2018 chyphalangism of the basal finger bones of the little finger with symptoms of Published: May 25, 2018 tenosynovitis. Tenosynovitis might be caused by growth deviation between the flexor digitorum superficialis and the flexor digitorum profundus.
    [Show full text]
  • Natural History of 39 Patients with Achondroplasia
    ORIGINAL ARTICLE Natural history of 39 patients with Achondroplasia Jose Ricardo Magliocco Ceroni,I,* Diogo Cordeiro de Queiroz Soares,I Larissa de Ca´ssia Testai,II Rachel Sayuri Honjo Kawahira,I Guilherme Lopes Yamamoto,I Sofia Mizuho Miura Sugayama,I Luiz Antonio Nunes de Oliveira,III Debora Romeo Bertola,I Chong Ae KimI I Unidade de Genetica, Instituto da Crianca (ICR), Hospital das Clinicas HCFMUSP, Faculdade de Medicina, Universidade de Sao Paulo, Sao Paulo, SP, BR. II Centro de Pesquisas sobre o Genoma Humano e Celulas-Tronco (CEGH-CEL), Instituto de Biociencias (IB), Universidade de Sao Paulo, Sao Paulo, SP, BR. III Unidade de Radiologia, Instituto da Crianca (ICR), Hospital das Clinicas HCFMUSP, Faculdade de Medicina, Universidade de Sao Paulo, Sao Paulo, SP, BR. Ceroni JR, Soares DC, Testai LC, Kawahira RS, Yamamoto GL, Sugayama SM, et al. Natural history of 39 patients with Achondroplasia. Clinics. 2018;73:e324 *Corresponding author. E-mail: [email protected] OBJECTIVES: To characterize the natural history of 39 achondroplastic patients diagnosed by clinical, radiological and molecular assessments. METHODS: Observational and retrospective study of 39 patients who were attended at a public tertiary level hospital between 1995 and 2016. RESULTS: Diagnosis was made prenatally in 11 patients, at birth in 9 patients and within the first year of life in 13 patients. The most prevalent clinical findings were short stature, high forehead, trident hands, genu varum and macrocephaly. The most prevalent radiographic findings were rhizomelic shortening of the long bones and narrowing of the interpediculate distance of the caudal spine. There was motor developmental delay in 18 patients and speech delay in 16 patients.
    [Show full text]
  • Four Unusual Cases of Congenital Forelimb Malformations in Dogs
    animals Article Four Unusual Cases of Congenital Forelimb Malformations in Dogs Simona Di Pietro 1 , Giuseppe Santi Rapisarda 2, Luca Cicero 3,* , Vito Angileri 4, Simona Morabito 5, Giovanni Cassata 3 and Francesco Macrì 1 1 Department of Veterinary Sciences, University of Messina, Viale Palatucci, 98168 Messina, Italy; [email protected] (S.D.P.); [email protected] (F.M.) 2 Department of Veterinary Prevention, Provincial Health Authority of Catania, 95030 Gravina di Catania, Italy; [email protected] 3 Institute Zooprofilattico Sperimentale of Sicily, Via G. Marinuzzi, 3, 90129 Palermo, Italy; [email protected] 4 Veterinary Practitioner, 91025 Marsala, Italy; [email protected] 5 Ospedale Veterinario I Portoni Rossi, Via Roma, 57/a, 40069 Zola Predosa (BO), Italy; [email protected] * Correspondence: [email protected] Simple Summary: Congenital limb defects are sporadically encountered in dogs during normal clinical practice. Literature concerning their diagnosis and management in canine species is poor. Sometimes, the diagnosis and description of congenital limb abnormalities are complicated by the concurrent presence of different malformations in the same limb and the lack of widely accepted classification schemes. In order to improve the knowledge about congenital limb anomalies in dogs, this report describes the clinical and radiographic findings in four dogs affected by unusual congenital forelimb defects, underlying also the importance of reviewing current terminology. Citation: Di Pietro, S.; Rapisarda, G.S.; Cicero, L.; Angileri, V.; Morabito, Abstract: Four dogs were presented with thoracic limb deformity. After clinical and radiographic S.; Cassata, G.; Macrì, F. Four Unusual examinations, a diagnosis of congenital malformations was performed for each of them.
    [Show full text]
  • Leri-Weill Dyschondrosteosis Syndrome: Analysis Via 3DCT Scan
    medicines Case Report Leri-Weill Dyschondrosteosis Syndrome: Analysis via 3DCT Scan Ali Al Kaissi 1,2,* , Mohammad Shboul 3, Vladimir Kenis 4 , Franz Grill 2, Rudolf Ganger 2 and Susanne Gerit Kircher 5 1 Ludwig Boltzmann Institute of Osteology, at the Hanusch Hospital of WGKK and, AUVA Trauma Centre Meidling, First Medical Department, Hanusch Hospital, Vienna 1140, Austria 2 Paediatric department, Orthopaedic Hospital of Speising, Vienna 1130, Austria; [email protected] (F.G.); [email protected] (R.G.) 3 Department of Medical Laboratory Sciences, Jordan University of Science and Technology, Irbid 22110, Jordan; [email protected] 4 Department of Foot and Ankle Surgery, Neuroorthopaedics and Systemic Disorders, Pediatric Orthopedic Institute n.a. H. Turner, Parkovaya str., 64–68, Pushkin, Saint Petersburg, Russia; [email protected] 5 Department of Medical Chemistry, Medical University of Vienna, Vienna 1090, Austria; [email protected] * Correspondence: [email protected]; Tel./Fax: +43-180-182-1260 Received: 17 May 2019; Accepted: 27 May 2019; Published: 29 May 2019 Abstract: Background: Leri-Weill dyschondrosteosis (LWD) is a pseudoautosomal form of skeletal dysplasia, characterized by abnormal craniofacial phenotype, short stature, and mesomelia of the upper and lower limbs. Methods: We describe two female patients with LWD. Their prime clinical complaints were severe bouts of migraine and antalgic gait. Results: Interestingly, via a 3D reconstruction CT scan we encountered several major anomalies. Notable features of craniosynostosis through premature fusion of the squamosal sutures and partial closure of the coronal sutures were the reason behind the development of abnormal craniofacial contour. A 3D reconstruction CT scan showed apparent bulging of the clavarium through the partially synostosed coronal and totally synostosed squamosal sutures.
    [Show full text]